Variant report

Variant	rs72927982
Chromosome Location	chr3:97867772-97867773
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr3:97867758-97867808	AG04450	lung:	fetal
2	chr3:97867758-97867808	AG09319	gingival:	n/a
3	chr3:97867758-97867808	HAEpiC	amniotic membrane:	n/a
4	chr3:97867758-97867808	HRCEpiC	kidney:	n/a
5	chr3:97867758-97867808	Hepatocyte	liver:	n/a
6	chr3:97867758-97867808	GM12892	blood:	n/a
7	chr3:97867758-97867808	ProgFib	skin:	n/a
8	chr3:97867758-97867808	BE2_C	brain:	n/a
9	chr3:97867758-97867808	HPAEpiC	pulmonary alveolar:	n/a
10	chr3:97867758-97867808	AG09309	skin:	n/a
11	chr3:97867758-97867808	HUVEC	blood vessel:	n/a
12	chr3:97867758-97867808	NT2-D1	testis:	n/a
13	chr3:97867758-97867808	HCF	heart:	n/a
14	chr3:97867758-97867808	HCM	heart:	n/a
15	chr3:97867758-97867808	LNCaP	prostate:	n/a
16	chr3:97867758-97867808	Jurkat	blood:	n/a
17	chr3:97867758-97867808	AG04449	skin:	fetal
18	chr3:97867758-97867808	ECC-1	luminal epithelium:	n/a
19	chr3:97867758-97867808	CMK	blood:	n/a
20	chr3:97867758-97867808	IMR90	lung:	fetal
21	chr3:97867758-97867808	HepG2	liver:	n/a
22	chr3:97867758-97867808	T-47D	breast:	n/a
23	chr3:97867758-97867808	GM06990	blood:	n/a
24	chr3:97867758-97867808	HEEpiC	esophagus:	n/a
25	chr3:97867758-97867808	MCF-7	breast:	n/a
26	chr3:97867758-97867808	K562	blood:	n/a
27	chr3:97867758-97867808	SK-N-SH_RA	brain:	n/a
28	chr3:97867758-97867808	HRPEpiC	eye:	n/a
29	chr3:97867758-97867808	GM12891	blood:	n/a
30	chr3:97867758-97867808	ovcar-3	ovarian:	n/a
31	chr3:97867758-97867808	SAEC	small airway:	n/a
32	chr3:97867758-97867808	HNPCEpiC	eye:	n/a
33	chr3:97867758-97867808	HRE	kidney:	n/a
34	chr3:97867758-97867808	GM12878	blood:	n/a
35	chr3:97867758-97867808	PrEC	prostate:	n/a
36	chr3:97867758-97867808	SK-N-MC	brain:	n/a
37	chr3:97867758-97867808	SK-N-SH	brain:	n/a
38	chr3:97867758-97867808	SKMC	muscle:	n/a
39	chr3:97867758-97867808	AG10803	skin:	n/a
40	chr3:97867758-97867808	AoSMC	blood vessel:	n/a
41	chr3:97867758-97867808	PFSK-1	brain:	n/a
42	chr3:97867758-97867808	HMEC	breast:	n/a
43	chr3:97867758-97867808	HIPEpiC	eye:	n/a
44	chr3:97867758-97867808	RPTEC	kidney:	n/a
45	chr3:97867758-97867808	H1-hESC	embryonic stem cell:	embryo
46	chr3:97867758-97867808	PANC-1	pancreas:	n/a
47	chr3:97867758-97867808	BJ	skin:	n/a
48	chr3:97867758-97867808	NH-A	brain:	n/a
49	chr3:97867758-97867808	A549	lung:	n/a
50	chr3:97867758-97867808	NHDF-neo	bronchial:	n/a

No data

Variant related genes	Relation type
ENSG00000249225	CpG island
OR5H14	CpG island

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs57254506	1.00[EUR][1000 genomes]
rs58748505	1.00[EUR][1000 genomes]
rs59543641	1.00[EUR][1000 genomes]
rs60261489	1.00[EUR][1000 genomes]
rs60519591	1.00[EUR][1000 genomes]
rs60778947	1.00[EUR][1000 genomes]
rs61219243	1.00[EUR][1000 genomes]
rs61484212	1.00[AMR][1000 genomes]
rs6786885	1.00[EUR][1000 genomes]
rs72922098	1.00[EUR][1000 genomes]
rs72922826	1.00[EUR][1000 genomes]
rs72924114	1.00[EUR][1000 genomes]
rs72926086	1.00[EUR][1000 genomes]
rs72926102	1.00[EUR][1000 genomes]
rs72927909	1.00[EUR][1000 genomes]
rs72927911	1.00[EUR][1000 genomes]
rs72927919	1.00[EUR][1000 genomes]
rs72927921	1.00[EUR][1000 genomes]
rs72927923	1.00[EUR][1000 genomes]
rs72927924	1.00[EUR][1000 genomes]
rs72927955	1.00[EUR][1000 genomes]
rs72927958	1.00[EUR][1000 genomes]
rs72927968	1.00[EUR][1000 genomes]
rs72927973	1.00[EUR][1000 genomes]
rs72927975	1.00[EUR][1000 genomes]
rs72929909	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72929910	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72929912	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72933943	1.00[EUR][1000 genomes]
rs72933953	1.00[EUR][1000 genomes]
rs72933955	1.00[EUR][1000 genomes]
rs72933957	1.00[EUR][1000 genomes]
rs72933960	1.00[EUR][1000 genomes]
rs72933962	1.00[EUR][1000 genomes]
rs72933966	1.00[EUR][1000 genomes]
rs72933968	1.00[EUR][1000 genomes]
rs72933969	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv877207	chr3:97708955-97899294	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	nsv869347	chr3:97742604-98051633	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
3	nsv877209	chr3:97806616-98049409	Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
4	nsv963576	chr3:97825434-98041343	Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
5	esv3358571	chr3:97845711-97881421	Enhancers Weak transcription Flanking Active TSS	TF binding region CpG island lncRNA	3 gene(s)	inside rSNPs	diseases
6	esv3340940	chr3:97845804-97881306	Enhancers Weak transcription Flanking Active TSS	TF binding region CpG island lncRNA	3 gene(s)	inside rSNPs	diseases
7	esv3498162	chr3:97851882-97868630	Enhancers Weak transcription Flanking Active TSS	TF binding region CpG island lncRNA	2 gene(s)	inside rSNPs	diseases
8	esv3498164	chr3:97851882-97868630	Enhancers Weak transcription Flanking Active TSS	TF binding region CpG island lncRNA	2 gene(s)	inside rSNPs	diseases
9	nsv1004820	chr3:97852875-98169488	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
10	nsv460768	chr3:97853159-97890367	Enhancers Flanking Active TSS Weak transcription	TF binding region CpG island lncRNA	3 gene(s)	inside rSNPs	diseases
11	nsv591043	chr3:97853159-97890367	Enhancers Weak transcription Flanking Active TSS	TF binding region CpG island lncRNA	3 gene(s)	inside rSNPs	diseases
12	esv3362196	chr3:97854330-97890699	Enhancers Flanking Active TSS Weak transcription	TF binding region CpG island lncRNA	3 gene(s)	inside rSNPs	diseases
13	nsv834773	chr3:97855362-98043888	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
14	esv3416921	chr3:97859875-97902358	Enhancers Active TSS Weak transcription Flanking Active TSS	TF binding region CpG island lncRNA	3 gene(s)	inside rSNPs	diseases
15	nsv1000834	chr3:97859880-98095473	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
16	nsv877210	chr3:97866177-97992964	ZNF genes & repeats Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:0 , 50 per page) page:

No data

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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